Department of Ophthalmology, National Eye Centre, University of Auckland, Auckland, New Zealand.
Surv Ophthalmol. 2010 Jul-Aug;55(4):378-85. doi: 10.1016/j.survophthal.2009.10.005. Epub 2010 Jan 18.
Autosomal dominant optic atrophy is an inherited optic neuropathy manifesting with variable penetrance and expressivity. Other genetic and environmental factors are postulated to contribute to more marked visual loss in some affected individuals. Optic neuropathy is also a known adverse effect of ethambutol therapy for tuberculosis. This case report demonstrates an atypical presentation of ethambutol toxicity, with progressive profound loss of vision despite drug cessation. A subsequent diagnosis of autosomal dominant optic atrophy was made when the proband's sons presented with mild visual disturbances and color vision defects, confirmed with electrophysiology and OPA1 gene mutational analysis. This case emphasizes the importance of avoiding potentially neurotoxic therapy in predisposed individuals and the influence of environmental factors in patients with inherited optic neuropathies.
常染色体显性视神经萎缩是一种遗传性视神经病变，表现为不同的外显率和表现度。其他遗传和环境因素被认为导致某些受累个体视力下降更为明显。视神经病变也是乙胺丁醇治疗结核病的已知不良反应。本病例报告显示了乙胺丁醇毒性的一种非典型表现，尽管停药，但视力仍进行性严重丧失。当先证者的儿子出现轻度视力障碍和色觉缺陷时，诊断为常染色体显性视神经萎缩，通过电生理学和 OPA1 基因突变分析得到证实。本病例强调了在易感个体中避免潜在神经毒性治疗的重要性，以及环境因素对遗传性视神经病变患者的影响。
